Sialidosis: a case report / 临床儿科杂志

Objective To explore the clinical features and pathogenic genes of sialidosis. Methods The clinical data and genetic test results of a family with sialidosis were retrospectively analysed. Results The proband was a 13-year-old girl who presented with limb pain at age 7, followed by progressive vision loss and convulsive seizure. In addition, she also had the sign of ataxia. Fundus examination showed optic atrophy in her eyes. Visual evoked potential showed that the latency of binocular P100 was significantly prolonged. The elder brother of the proband showed similar manifestation. PCR was used to amplify the exons and exon-intron boundaries of the NEU1 gene, and DNA direct sequencing was used to detect the mutation in this gene. It was found that both proband and her brother carried two known pathogenic heterozygous mutations in the NEU1 gene, c.239C>T (p.P80L) and c.544A>G (p.P80L) respectively from both their mother and father of normal phenotype. Conclusion The causative mutation of the NEU1 gene in the family of sialidosis has been defined.

Oil Droplet Cataract: Cause of Decreased Vision of Unknown Etiology

PURPOSE: To report cases of oil droplet cataract, one cause of decreased vision of unknown etiology. METHODS: We performed a retrospective chart review analysis of patients referred to the neuro-ophthalmology clinic due to unknown etiology of decreased visual acuity and diagnosed with oil droplet cataract. Clinical features including history, result of ophthalmologic examinations, and clinical course were evaluated. RESULTS: Among the patients referred to the neuro-ophthalmology clinic due to unknown etiology of decreased visual acuity, 6 patients were diagnosed with oil droplet cataract. The patients ranged from 38 to 63 years of age and their best corrected visual acuities at their first visits were between 0.1 and 0.7. Ophthalmologic examinations including neuro-ophthalmologic tests were normal except for changes in lens nucleus and peculiar fundus reflexes were observed using retinoscopy in all patients. Five eyes of 4 patients underwent cataract surgery and all 5 eyes achieved the best corrected visual acuity of 1.0 or higher. CONCLUSIONS: Oil droplet cataract is a cause of decreased visual acuity of unknown etiology that can be missed. The disease abnormalities are difficult to observe because only subtle changes in lens nucleus are apparent on slit lamp examination; however characteristic fundus reflexes can be identified using retinoscopy. Ophthalmologists should thoroughly understand the oil droplet cataract and diagnose it in the early stages to avoid misdiagnosis and unnecessary costs.

A Case of Multiple Myeloma Presented With Bilateral Corneal Crystalline Deposition

PURPOSE: Multiple myeloma is characterized by the neoplastic proliferation of a single clone of plasma cells. Multiple myeloma rarely involves the eyeball or the orbital tissues. We report a case of multiple myeloma that presented with corneal crystalline depositions in a patient complaining of decreased vision and irritation of both eyes without any systemic symptoms. CASE SUMMARY: A 63-year-old woman complained of decreased vision and irritation of both eyes that had started suddenly 20 days before. Uncorrected visual acuity was 0.2 in the right eye and 0.3 in the left eye. Best-corrected visual acuity (BCVA) was 0.9 in the right eye and 1.0 in the left eye. Slit lamp examination showed gray-white crystalline depositions on the epithelium, stroma and Descemet membrane of the cornea extensively, except for the limbus. There were no specific findings on intraocular pressure measurement and fundus examination. The patient did not complain of any systemic symptoms. Multiple myeloma was diagnosed by blood examination and bone marrow biopsy. Two months later, the BCVA decreased to 0.3 in both eyes and artificial tears were prescribed to relieve irritation. CONCLUSIONS: When irritation and decreased vision occur abruptly even without systemic symptoms, there is a possibility of multiple myeloma. Systemic evaluations are needed in these cases.